Global Variome shared LOVD

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Phenotype #0000094121 Individual ID 00119123 Associated disease LGMD Phenotype details see paper; ...; progressive muscle weakness proximal limbs, hip dysplasia, scoliosis, hypertrichosis; eye abnormalities 2 patients; no obvious cardiac or bulbar muscle involvement; CPK level 9-16x Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2013-01-15 09:57:52 +01:00 (CET) Date last edited 2017-09-08 11:38:28 +02:00 (CEST)

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